Establishment of human induced pluripotent stem cell line from a patient with Angelman syndrome carrying the deletion of maternal chromosome 15q11.2-q13

摘要

Angelman syndrome is a rare neurodevelopmental disorder caused by the loss of function of the maternally expressed E3 ubiquitin ligase UBE3A. We established human induced pluripotent stem cells (iPSCs) from an Angelman syndrome patient with the deletion of maternal 15q11.2-q13 including UBE3A gene. The generated iPSC line showed pluripotency markers and the ability of in vitro differentiation into the three-germ layer. FISH analysis and methylation-specific PCR analysis of genomic DNA revealed the deletion of maternal 15q11.2-q13 in the iPSCs. This iPSC line will be useful for elucidating pathomechanisms and for drug discovery and development for Angelman syndrome.